| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Balance in patients with Marfan syndrome
|
Monteleone, Serena
|
|
2018
|
|
3-4 |
p. 145-156
|
artikel
|
| 2 |
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium
|
Ah Mew, Nicholas
|
|
2018
|
|
3-4 |
p. 157-170
|
artikel
|
| 3 |
Creating a multi-center rare disease consortium – the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)
|
Cheng, Katherine
|
|
2017
|
|
3-4 |
p. 141-155
|
artikel
|
| 4 |
Disorders of metal metabolism
|
Ferreira, Carlos R.
|
|
2017
|
|
3-4 |
p. 101-139
|
artikel
|
| 5 |
Elements of genetic counseling for inborn errors of metabolism
|
Beck, Natalie
|
|
|
|
3-4 |
p. 197-208
|
artikel
|
| 6 |
Ethical issues related to clinical research and rare diseases
|
Coors, Marilyn
|
|
2017
|
|
3-4 |
p. 175-194
|
artikel
|
| 7 |
Expanding clinical genetics services in a rural state in the post-genomic, technology-connected age: A dispatch from Mississippi
|
Kirmse, Brian
|
|
|
|
3-4 |
p. 169-177
|
artikel
|
| 8 |
How do I treat when there is no treatment?
|
Regier, Debra S.
|
|
|
|
3-4 |
p. 189-195
|
artikel
|
| 9 |
Japanese pathogenic variant database: DPV
|
Suzuki, Hisato
|
|
2018
|
|
3-4 |
p. 133-137
|
artikel
|
| 10 |
KCNMA1 mutation in children with paroxysmal dyskinesia and epilepsy: Case report and literature review
|
Wang, Jiaping
|
|
2017
|
|
3-4 |
p. 165-173
|
artikel
|
| 11 |
Management of rare diseases
|
Ferreira, Carlos
|
|
|
|
3-4 |
p. 117-119
|
artikel
|
| 12 |
Meeting report from the Mitochondrial Medicine Southeast Regional Symposium — understanding mitochondrial disease and mitochondrial dysfunction: Opportunities and impacts in the clinic and laboratory
|
Stone, Amy
|
|
2017
|
|
3-4 |
p. 195-214
|
artikel
|
| 13 |
Opportunities, barriers, and recommendations in Down syndrome research
|
Hendrix, James A.
|
|
|
|
3-4 |
p. 99-129
|
artikel
|
| 14 |
Practical management of lysosomal storage disorders (LSDs)
|
Tanpaiboon, Pranoot
|
|
|
|
3-4 |
p. 133-157
|
artikel
|
| 15 |
Practical management of organic acidemias
|
Chapman, Kimberly A.
|
|
|
|
3-4 |
p. 121-131
|
artikel
|
| 16 |
Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism
|
De Castro, Mauricio
|
|
|
|
3-4 |
p. 159-168
|
artikel
|
| 17 |
Presentation of a recurrent FMR1 missense mutation (R138Q) in an affected female
|
Diaz, Jullianne
|
|
2018
|
|
3-4 |
p. 139-144
|
artikel
|
| 18 |
Regenerative Medicine Therapies for Rare Diseases
|
Lapteva, Larissa
|
|
2018
|
|
3-4 |
p. 121-132
|
artikel
|
| 19 |
Rett syndrome: Novel correlations linking >96% genotype, disease severity, and seizures
|
Rodriguez, Lourdes M.
|
|
|
|
3-4 |
p. 131-141
|
artikel
|
| 20 |
Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation
|
Khatter, Sangeeta
|
|
2017
|
|
3-4 |
p. 157-164
|
artikel
|
| 21 |
The general status of rare disorders
|
Percy, Alan K.
|
|
|
|
3-4 |
p. 97-98
|
artikel
|
| 22 |
The undiagnosed diseases program: Approach to diagnosis
|
Macnamara, Ellen F.
|
|
|
|
3-4 |
p. 179-188
|
artikel
|
| 23 |
Treating neuroendocrine neoplasms in the setting of HIV infection
|
Hayes, Aimee R.
|
|
|
|
3-4 |
p. 143-159
|
artikel
|
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